الفهرس 
IntroductionOnly 14 pages are availabe for public view
 |  | from | 164 |  |  |
| | | from | 164 | | |
Abstract
Multiple sclerosis is an autoimmune, inflammatory disorder related to neuronal structure, and it is one of the prominent causes of young and middle-aged adult disability in the community (Lill,2014).
Many studies have been focusing on the neurodegenerative component of the disease, which is believed to cause disability (Lee et al., 2014).
Syntaxin 1A protein is located in the presynaptic region and forms the SNARE complex with SNAP-25 and VAMP2; the SNARE complex is critical in neurotransmission (Bennett et al.,1992).
The aim of the present study is to investigate Syntaxin 1A genetic polymorphism (rs1569061) in patients with multiple sclerosis. and the possible relation between Syntaxin 1A genetic polymorphism and disease course and disablility in Beni-Suef governorate, north Upper Egypt.
This study is a case control study and was conducted in department of neu-rology, Beni-Suef university hospital during the period between from May 2021 to march 2022.The study included 75 Egyptian patients diagnosed as Multiple Sclerosis of different clinical courses
- relapsing remitting (55 patients)
- secondary progressive (10 patients)
- primary progressive (10 patients)
and 75 Control subjects.
All patients were subjected to:
1-History taking: focusing on risk factors including family history ,environmental, infectious and clinical course of previous attacks.
2-Medical examination: including vital signs and cardiac, chest and abdominal assessment.
3-Neurological assessment: guided by Multiple Sclerosis sheet of neurology department; Beni-suef University. (Appendix II)
4-The assessment of neurological impairment by expanded disability status score ( EDSS) (Kurtzke,1983).
5- The assessment of cognitive impairment by brief international cognitive assessment in patients of multiple sclerosis (BICAMS) (Arabic version) (Kishk et al.,2017).
6- The assessment of fatigue in patients of multiple sclerosis using Fatigue severity scale(FSS) (Krupp et al.,1989).
7-Magnetic Resonance Imaging: Patient group was subjected to Magnetic Resonance Imaging (MRI) for brain and spinal cord which was performed on a 1.5 Tesla SIMENS SCANNER MAGNETOM AERA MRI ,serial number 42612 ,made in Germany at the Radiology Department, Beni Suef University Hospital.
The following protocols were used:
.(T1- weighted images (axial, sagittal
.(T2- weighted images (axial, coronal
Fluid attenuated inversion recovery (FLAIR) sequence.
Gadolinium enhanced T1-weighted axial and sagittal images for patients with clinical attacks at time of assessment.
Laboratory Investigations:
Both patients and control groups were subjected to DNA extraction and genotyping of Syntaxin 1A gene ( rs1569061)polymorphism:
Genomic DNA was extracted from EDTA-containing peripheral venous blood samples.
Genotyping of SNP (rs1569061) in Syntaxin 1A gene was performed using real-time polymerase chain reaction (allelic discrimination).
The results of this work can be summarized in these points:
there was no significant difference between genotypes and different alleles distribution for Syntaxin 1A (rs 1569061) between MS patients and controls.
no significant difference was found between genotypes and allele distribution for Syntaxin 1A (rs 1569061) among cases of MS regarding age, and sex.
there was no significant difference between syntaxin1A (rs1569061) genotypes and allele distribution among cases of MS and disease characters (age of disease onset, disease duration, number of MS attacks)
no significant difference was found between genotypes and allele distribution for Syntaxin 1A (rs 1569061) among cases of MS regarding EDSS.
there was no significant difference between genotypes and allele distribution for Syntaxin 1A (rs 1569061) among cases of MS regarding FSS.
there was no significant difference between genotypes and allele distribution for Syntaxin 1A (rs 1569061) among cases of MS regarding the count of MRI T2 lesions .
there was no significant difference between genotypes and allele distribution for Syntaxin 1A (rs 1569061) among cases of MS regarding cognition affection (BICAMS).
there was a significant difference with p-value 0.002 between types of MS as regards age with older age among primary progressive type and younger age among relapsing remitting type. As regards sex, higher percentage of relapsing remitting type was noticed in females with p-value 0.01
While comparing clinical parameters among different MS disease courses. The RRMS patients had shorter disease duration and lower number of attacks. Also their assessment using EDSS, and FSS scores showed better results
There was a significant difference in all T2 MRI foci counting in different brain sites between types of MS with lower number of foci in Relapsing Remitting type.
there was a significant difference in all cognition assessment scores between types of MS with higher cognition scores among Relapsing Remitting type.
no significant difference was found between males and females regarding EDSS score among cases of MS. on the other hands there was a significant difference with p-value <0.05 in EDSS score between types of MS with lower mean among Relapsing Remitting type which explains the effect of disease progression on patients’clinical state
there was a significant positive correlation between EDSS score and FSS
there was a significant positive correlation between EDSS score and each of age, disease duration, number of attacks, which indicated an increase in all these variables will be associated with increase in EDSS.
a significant positive correlation was found between EDSS score and MRI foci count in Peri-ventricular, Infra-tentorial, and spinal cord, which indicated an increase in all these variables will be associated with increase in EDSS.
there was a significant negative correlation between EDSS score and all cognitive assessment scores (BICAMS), which indicated increase in EDSS will associate with decrease in cognitive assessment scores. This means that cognitive impairment increased with disability progression. On the other hand, there was no statistical significant correlation between EDSS score and age of onset.